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Reproducibility and reusability of genome assembly evaluation

Ifzal, Sabba
Master thesis
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Thesis.pdf (8.366Mb)
Year
2014
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http://urn.nb.no/URN:NBN:no-46516

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  • Institutt for informatikk [2643]
Abstract
DNA sequencing technology such as Next Generation Sequencing (NGS) is developing and revolutionizing the field of sequencing, allowing scientists to determine the sequence of nucleotides with an extreme speed. The task of puzzling together small pieces of a sequence from a new genome into larger continuous parts is difficult, and the bioinformatics field lacks enough information about which method would perform best under certain conditions. The aims for this thesis is to create a system or tool which enable its users to assess assemblies based on existing technology, such as QUAST, but with results that can be visualized with more custom, user-defined features, such as bar charts and scatterplots. This thesis will also tentatively reproduce results from the GAGE-B paper, as well as reuse the same data with newer versions of the assemblers to assess any development experienced on bacterial genomes. It was more difficult than anticipated to reproduce results, mostly because of unsatisfying descriptions in the GAGE-B paper, but the results showed that despite the numerical differences observed, the conclusion from the GAGE-B paper was not significantly changed. Experiments also showed that the new Galaxy tools developed for assembly evaluation can be helpful for the scientific community to make easily reproducible data and for comparison of assemblies in the future.
 
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